Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_003640.5(ELP1):c.2204+6T>C	SNV Germline	Chr9:108899816	Pathogenic	Familial dysautonomia Condition: not provided Charcot-Marie-Tooth disease Medulloblastoma not specified	Criteria Provided Multiple Submitters No Conflicts	CA284834	rs_111033171	21 SubmittersRCV000006458 RCV000058928 RCV000789357 RCV003444194 RCV004018577
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro)	SNV Germline	Chr9:108900303	Pathogenic/Likely pathogenic	Familial dysautonomia Charcot-Marie-Tooth disease Condition: not provided Familial dysautonomia Medulloblastoma	Criteria Provided Multiple Submitters No Conflicts	CA253767	rs_137853022	9 SubmittersRCV000006459 RCV000789660 RCV001380395 RCV002482833
NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu)	SNV Germline	Chr9:108894062	Likely pathogenic	Familial dysautonomia Charcot-Marie-Tooth disease	Criteria Provided Single Submitter	CA253769	rs_28939712	3 SubmittersRCV000006460 RCV000789661
NM_003640.5(ELP1):c.1230G>A (p.Pro410=)	SNV Germline	Chr9:108911140	Conflicting classifications of pathogenicity	not specified Familial dysautonomia Condition: not provided	Criteria Provided Conflicting Classifications	CA291214	rs_41278359	8 SubmittersRCV000125400 RCV000308481 RCV000857535
NM_003640.5(ELP1):c.1886G>A (p.Arg629His)	SNV Germline	Chr9:108901650	Conflicting classifications of pathogenicity	not specified Familial dysautonomia Condition: not provided	Criteria Provided Conflicting Classifications	CA240882	rs_148378319	9 SubmittersRCV000214808 RCV000316773 RCV000724344
NM_003640.5(ELP1):c.3280A>G (p.Arg1094Gly)	SNV Germline	Chr9:108882130	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia not specified	Criteria Provided Conflicting Classifications	CA5174360	rs_146440397	9 SubmittersRCV000659118 RCV001166178 RCV004020903
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln)	SNV Germline	Chr9:108893978	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia Medulloblastoma not specified	Criteria Provided Conflicting Classifications	CA5174526	rs_149845612	11 SubmittersRCV000757401 RCV001166669 RCV002291611 RCV004020902
NM_003640.5(ELP1):c.1364A>G (p.Asp455Gly)	SNV Germline	Chr9:108908401	Conflicting classifications of pathogenicity	Condition: not provided ELP1-related disorder Familial dysautonomia Medulloblastoma not specified	Criteria Provided Conflicting Classifications	CA5175034	rs_149685738	7 SubmittersRCV000227222 RCV004751397 RCV001276239 RCV003230264 RCV004020906
NM_003640.5(ELP1):c.208C>T (p.Arg70Cys)	SNV Germline	Chr9:108929864	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia not specified	Criteria Provided Conflicting Classifications	CA5175431	rs_3737311	6 SubmittersRCV000278649 RCV000287654 RCV004021176
NM_003640.5(ELP1):c.3474C>T (p.Pro1158=)	SNV Germline	Chr9:108879544	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided ELP1-related disorder not specified	Criteria Provided Conflicting Classifications	CA5174285	rs_146956297	7 SubmittersRCV000384366 RCV000863170 RCV003922638 RCV004022092
NM_003640.5(ELP1):c.3222+14C>T	SNV Germline	Chr9:108889318	Conflicting classifications of pathogenicity	Familial dysautonomia not specified Condition: not provided ELP1-related disorder	Criteria Provided Conflicting Classifications	CA5174381	rs_374787755	6 SubmittersRCV000377567 RCV000432127 RCV001699403 RCV003950291
NM_003640.5(ELP1):c.1878C>T (p.Asp626=)	SNV Germline	Chr9:108901658	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided ELP1-related disorder	Criteria Provided Conflicting Classifications	CA5174858	rs_141596257	5 SubmittersRCV000387658 RCV000858502 RCV003950292
NM_003640.5(ELP1):c.3869A>G (p.Asn1290Ser)	SNV Germline	Chr9:108874957	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA5174147	rs_145319352	6 SubmittersRCV000355008 RCV000757404 RCV004022089
NM_003640.5(ELP1):c.2799G>A (p.Arg933=)	SNV Germline	Chr9:108894004	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA5174535	rs_367974002	5 SubmittersRCV000390834 RCV000867149 RCV004022095
NM_003640.5(ELP1):c.923T>C (p.Leu308Pro)	SNV Germline	Chr9:108916239	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided ELP1-related disorder	Criteria Provided Conflicting Classifications	CA5175196	rs_78135392	6 SubmittersRCV000262689 RCV000755553 RCV003932508
NM_003640.5(ELP1):c.169T>C (p.Leu57=)	SNV Germline	Chr9:108929903	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA10628782	rs_886063349	4 SubmittersRCV000339134 RCV002058764 RCV004022104
NM_003640.5(ELP1):c.-155A>T	SNV Germline	Chr9:108933963	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided	Criteria Provided Conflicting Classifications	CA10628783	rs_117100816	2 SubmittersRCV000356773 RCV003422364
NM_003640.5(ELP1):c.3876T>G (p.Thr1292=)	SNV Germline	Chr9:108874950	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided ELP1-related disorder	Criteria Provided Conflicting Classifications	CA5174146	rs_61749202	8 SubmittersRCV000297833 RCV000590763 RCV003970072
NM_003640.5(ELP1):c.3513T>C (p.Ser1171=)	SNV Germline	Chr9:108879505	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA5174275	rs_199617076	4 SubmittersRCV000274649 RCV000869320 RCV004022091
NM_003640.5(ELP1):c.1911T>C (p.Val637=)	SNV Germline	Chr9:108901528	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA5174837	rs_369645371	8 SubmittersRCV000278309 RCV001450077 RCV004022098
NM_003640.5(ELP1):c.304-5C>T	SNV Germline	Chr9:108927458	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided	Criteria Provided Conflicting Classifications	CA5175398	rs_370384351	2 SubmittersRCV000327469 RCV000858401
NM_003640.5(ELP1):c.209G>A (p.Arg70His)	SNV Germline	Chr9:108929863	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided Hereditary sensory and autonomic neuropathy ELP1-related disorder	Criteria Provided Conflicting Classifications	CA5175430	rs_111936933	6 SubmittersRCV000384303 RCV000858275 RCV001271221 RCV003922639
NM_003640.5(ELP1):c.3931+14C>G	SNV Germline	Chr9:108874881	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided	Criteria Provided Conflicting Classifications	CA10632209	rs_555520875	3 SubmittersRCV000406241 RCV002061308
NM_003640.5(ELP1):c.2958+10A>T	SNV Germline	Chr9:108892976	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided	Criteria Provided Conflicting Classifications	CA5174489	rs_768709875	2 SubmittersRCV000298453 RCV001451072
NM_003640.5(ELP1):c.2598C>T (p.Pro866=)	SNV Germline	Chr9:108896634	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA5174574	rs_773218149	5 SubmittersRCV000312657 RCV001459462 RCV004022096
NM_003640.5(ELP1):c.2370A>G (p.Glu790=)	SNV Germline	Chr9:108897279	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA5174662	rs_772114554	4 SubmittersRCV000324095 RCV001417884 RCV004022097
NM_003640.5(ELP1):c.947C>T (p.Pro316Leu)	SNV Germline	Chr9:108916215	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided Familial dysautonomia Medulloblastoma not specified	Criteria Provided Conflicting Classifications	CA5175187	rs_374814563	7 SubmittersRCV000302687 RCV000493897 RCV002488820 RCV003330656
NM_003640.5(ELP1):c.203G>T (p.Ser68Ile)	SNV Germline	Chr9:108929869	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA5175432	rs_143723093	4 SubmittersRCV000345015 RCV000863374 RCV004022103
NM_003640.5(ELP1):c.2860+2T>C	SNV Germline	Chr9:108893941	Likely pathogenic	Familial dysautonomia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA5174517	rs_754348901	2 SubmittersRCV000409912 RCV001865258
NM_003640.5(ELP1):c.2817C>A (p.Tyr939Ter)	SNV Unknown	Chr9:108893986	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter	CA5174529	rs_749052963	1 SubmittersRCV000410939
NM_003640.5(ELP1):c.2204+1G>A	SNV Germline	Chr9:108899821	Likely pathogenic	Familial dysautonomia	Criteria Provided Multiple Submitters No Conflicts	CA16041295	rs_1057517169	2 SubmittersRCV000409095
NM_003640.5(ELP1):c.1213C>T (p.Arg405Trp)	SNV Germline	Chr9:108911157	Conflicting classifications of pathogenicity	Condition: not provided not specified Familial dysautonomia Hereditary sensory and autonomic neuropathy	Criteria Provided Conflicting Classifications	CA5175080	rs_139703788	7 SubmittersRCV000630703 RCV000780354 RCV001168463 RCV001276240
NM_003640.5(ELP1):c.3347-15A>G	SNV Germline	Chr9:108880180	Conflicting classifications of pathogenicity	not specified Familial dysautonomia Condition: not provided	Criteria Provided Conflicting Classifications	CA5174326	rs_200154542	6 SubmittersRCV000434445 RCV001166177 RCV001701004
NM_003640.5(ELP1):c.2436C>T (p.Asp812=)	SNV Germline	Chr9:108897213	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia	Criteria Provided Conflicting Classifications	CA5174646	rs_113967847	4 SubmittersRCV000828356 RCV001169158
NM_003640.5(ELP1):c.948G>A (p.Pro316=)	SNV Germline	Chr9:108916214	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia not specified	Criteria Provided Conflicting Classifications	CA5175186	rs_148917889	7 SubmittersRCV000529925 RCV001168466 RCV004023742
NM_003640.5(ELP1):c.650-6G>A	SNV Germline	Chr9:108918907	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia not specified	Criteria Provided Conflicting Classifications	CA5175273	rs_571466270	3 SubmittersRCV000530797 RCV001271216 RCV004023741
NM_003640.5(ELP1):c.1704A>G (p.Ser568=)	SNV Germline	Chr9:108903609	Conflicting classifications of pathogenicity	not specified Condition: not provided Familial dysautonomia	Criteria Provided Conflicting Classifications	CA5174925	rs_138192941	7 SubmittersRCV000592752 RCV000726723 RCV001166745
NM_003640.5(ELP1):c.1461-2A>G	SNV Germline	Chr9:108906487	Pathogenic/Likely pathogenic	Condition: not provided Familial dysautonomia Medulloblastoma	Criteria Provided Multiple Submitters No Conflicts	CA197540498	rs_866046915	7 SubmittersRCV000596965 RCV000668028 RCV003989567
NM_003640.5(ELP1):c.2217A>G (p.Lys739=)	SNV Germline	Chr9:108898737	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia not specified	Criteria Provided Conflicting Classifications	CA5174728	rs_139583037	4 SubmittersRCV000593304 RCV001276229 RCV004024769
NM_003640.5(ELP1):c.312T>A (p.Cys104Ter)	SNV Germline	Chr9:108927445	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia ELP1-related disorder	Criteria Provided Conflicting Classifications	CA374392175	rs_1291760879	5 SubmittersRCV000596363 RCV000778872 RCV003403403
NM_003640.5(ELP1):c.3573-7C>G	SNV Germline	Chr9:108878757	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided	Criteria Provided Conflicting Classifications	CA5174241	rs_370571926	4 SubmittersRCV000630701 RCV000859237
NM_003640.5(ELP1):c.1039G>T (p.Val347Leu)	SNV Germline	Chr9:108912414	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia not specified	Criteria Provided Conflicting Classifications	CA5175144	rs_748458910	3 SubmittersRCV000630680 RCV001276242 RCV004025383
NM_003640.5(ELP1):c.606G>T (p.Gly202=)	SNV Germline	Chr9:108919296	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia	Criteria Provided Conflicting Classifications	CA5175297	rs_768309637	4 SubmittersRCV000827122 RCV001166286
NM_003640.5(ELP1):c.2958+1G>C	SNV Germline	Chr9:108892985	Likely pathogenic	Familial dysautonomia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1239081703	2 SubmittersRCV000667505 RCV001855481
NM_003640.5(ELP1):c.2014+1G>A	SNV Unknown	Chr9:108901424	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter		rs_1554696574	1 SubmittersRCV000672450
NM_003640.5(ELP1):c.1461-1G>T	SNV Unknown	Chr9:108906486	Likely pathogenic	Familial dysautonomia Medulloblastoma Familial dysautonomia	Criteria Provided Multiple Submitters No Conflicts		rs_539544212	2 SubmittersRCV000667416 RCV002493094
NM_003640.5(ELP1):c.1461-1G>A	SNV Germline	Chr9:108906486	Likely pathogenic	Familial dysautonomia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_539544212	2 SubmittersRCV000672968 RCV002532138
NM_003640.5(ELP1):c.1360+1G>T	SNV Germline	Chr9:108911009	Likely pathogenic	Familial dysautonomia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1201626345	2 SubmittersRCV000668411 RCV003546586
NM_003640.5(ELP1):c.385+1G>A	SNV Germline	Chr9:108927371	Likely pathogenic	Familial dysautonomia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1554703061	3 SubmittersRCV000674490 RCV001378198
NM_003640.5(ELP1):c.151-1G>T	SNV Unknown	Chr9:108929922	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter		rs_1554703613	1 SubmittersRCV000674659
NM_003640.5(ELP1):c.79C>T (p.Arg27Ter)	SNV Germline	Chr9:108931068	Pathogenic/Likely pathogenic	Familial dysautonomia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_868073099	2 SubmittersRCV000667419 RCV001855480
NM_003640.5(ELP1):c.4C>T (p.Arg2Ter)	SNV Germline	Chr9:108931143	Pathogenic/Likely pathogenic	Familial dysautonomia Condition: not provided Medulloblastoma	Criteria Provided Multiple Submitters No Conflicts		rs_926177767	5 SubmittersRCV000667461 RCV001204091 RCV003325211
NM_003640.5(ELP1):c.3592C>T (p.Arg1198Ter)	SNV Germline	Chr9:108878731	Pathogenic/Likely pathogenic	Familial dysautonomia Condition: not provided Medulloblastoma Familial dysautonomia ELP1-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_376078668	5 SubmittersRCV000668488 RCV001071602 RCV002499163 RCV003411577
NM_003640.5(ELP1):c.2587+2T>G	SNV Germline	Chr9:108896951	Likely pathogenic	Familial dysautonomia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1554695299	2 SubmittersRCV000667504 RCV003546585
NM_003640.5(ELP1):c.1908+2T>A	SNV Unknown	Chr9:108901626	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter		rs_1554696648	1 SubmittersRCV000667502
NM_003640.5(ELP1):c.1854+1G>A	SNV Germline	Chr9:108902838	Likely pathogenic	Familial dysautonomia Medulloblastoma Familial dysautonomia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1554696934	3 SubmittersRCV000674672 RCV002499191 RCV002544672
NM_003640.5(ELP1):c.1189+1G>A	SNV Unknown	Chr9:108912263	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter		rs_1554699327	1 SubmittersRCV000667471
NM_003640.5(ELP1):c.151-1G>A	SNV Germline	Chr9:108929922	Likely pathogenic	Familial dysautonomia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1554703613	2 SubmittersRCV000668015 RCV003708547
NM_003640.5(ELP1):c.3931+1G>T	SNV Germline	Chr9:108874894	Conflicting classifications of pathogenicity	Familial dysautonomia not specified Condition: not provided	Criteria Provided Conflicting Classifications		rs_143674809	4 SubmittersRCV000666267 RCV003117466 RCV002530675
NM_003640.5(ELP1):c.3701-1G>A	SNV Germline	Chr9:108878150	Likely pathogenic	Familial dysautonomia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1554691572	2 SubmittersRCV000667528 RCV003767957
NM_003640.5(ELP1):c.2205-1G>C	SNV Germline	Chr9:108898750	Likely pathogenic	Familial dysautonomia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1554695846	2 SubmittersRCV000667498 RCV001861759
NM_003640.5(ELP1):c.1751-2A>T	SNV Unknown	Chr9:108902944	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter		rs_1554697001	1 SubmittersRCV000674829
NM_003640.5(ELP1):c.1750+1G>T	SNV Unknown	Chr9:108903562	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter		rs_770668926	1 SubmittersRCV000673955
NM_003640.5(ELP1):c.552+2T>A	SNV Germline	Chr9:108922840	Likely pathogenic	Familial dysautonomia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1554702142	3 SubmittersRCV000667989 RCV001216024
NM_003640.5(ELP1):c.552+1G>T	SNV Germline	Chr9:108922841	Likely pathogenic	Familial dysautonomia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_765572951	2 SubmittersRCV000673191 RCV003768003
NM_003640.5(ELP1):c.386-2A>C	SNV Unknown	Chr9:108926605	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter		rs_1554702880	1 SubmittersRCV000668110
NM_003640.5(ELP1):c.150+1G>A	SNV Unknown	Chr9:108930996	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter		rs_1554703831	1 SubmittersRCV000669523
NM_003640.5(ELP1):c.3701-6C>G	SNV Germline	Chr9:108878155	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided not specified	Criteria Provided Conflicting Classifications		rs_148535504	4 SubmittersRCV000664986 RCV001391327 RCV004026077
NM_003640.5(ELP1):c.3346+1G>A	SNV Germline	Chr9:108881704	Likely pathogenic	Familial dysautonomia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_760774999	3 SubmittersRCV000669335 RCV001056423
NM_003640.5(ELP1):c.304-2A>G	SNV Germline	Chr9:108927455	Likely pathogenic	Familial dysautonomia Condition: not provided Medulloblastoma Familial dysautonomia	Criteria Provided Multiple Submitters No Conflicts		rs_757972943	4 SubmittersRCV000667469 RCV001379354 RCV002485537
NM_003640.5(ELP1):c.1A>T (p.Met1Leu)	SNV Unknown	Chr9:108931146	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter		rs_1554703907	1 SubmittersRCV000667495
NM_003640.5(ELP1):c.1768A>G (p.Ile590Val)	SNV Germline	Chr9:108902925	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia not specified	Criteria Provided Conflicting Classifications		rs_369856286	3 SubmittersRCV000698326 RCV001835923 RCV004026442
NM_003640.5(ELP1):c.1309A>C (p.Asn437His)	SNV Germline	Chr9:108911061	Conflicting classifications of pathogenicity	Familial dysautonomia Medulloblastoma Familial dysautonomia Condition: not provided not specified	Criteria Provided Conflicting Classifications		rs_148609833	7 SubmittersRCV000796780 RCV002495051 RCV002534609 RCV004027574
NM_003640.5(ELP1):c.3572+1G>A	SNV Germline	Chr9:108879445	Likely pathogenic	Familial dysautonomia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_571348995	3 SubmittersRCV000806459 RCV001377355
NM_003640.5(ELP1):c.2026G>A (p.Gly676Ser)	SNV Germline	Chr9:108900364	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia not specified	Criteria Provided Conflicting Classifications		rs_537930129	5 SubmittersRCV000863776 RCV001169160 RCV004027602
NM_003640.5(ELP1):c.2769A>G (p.Thr923=)	SNV Germline	Chr9:108894034	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia	Criteria Provided Conflicting Classifications		rs_370330097	3 SubmittersRCV000870786 RCV001168404
NM_003640.5(ELP1):c.1914G>A (p.Ala638=)	SNV Germline	Chr9:108901525	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia not specified	Criteria Provided Conflicting Classifications		rs_142096497	3 SubmittersRCV000867920 RCV001563846 RCV004027708
NM_003640.5(ELP1):c.3441A>G (p.Gln1147=)	SNV Germline	Chr9:108880071	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia	Criteria Provided Conflicting Classifications		rs_779796058	3 SubmittersRCV000873503 RCV001169094
NM_003640.5(ELP1):c.717A>C (p.Gly239=)	SNV Germline	Chr9:108918834	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia	Criteria Provided Conflicting Classifications		rs_1333495798	2 SubmittersRCV000875057 RCV001169196
NM_003640.5(ELP1):c.959-8C>T	SNV Germline	Chr9:108912502	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia	Criteria Provided Conflicting Classifications		rs_766511916	3 SubmittersRCV000936966 RCV001168465
NM_003640.5(ELP1):c.2824C>T (p.Arg942Ter)	SNV Germline	Chr9:108893979	Pathogenic/Likely pathogenic	Condition: not provided Medulloblastoma Familial dysautonomia not specified Medulloblastoma	Criteria Provided Multiple Submitters No Conflicts		rs_761911009	4 SubmittersRCV001052645 RCV002505601 RCV004031649 RCV003444766
NM_003640.5(ELP1):c.3144C>T (p.Leu1048=)	SNV Germline	Chr9:108891219	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided	Criteria Provided Conflicting Classifications		rs_764867856	2 SubmittersRCV001166667 RCV002067812
NM_003640.5(ELP1):c.1957T>C (p.Leu653=)	SNV Germline	Chr9:108901482	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided not specified	Criteria Provided Conflicting Classifications		rs_542412132	4 SubmittersRCV001166230 RCV001521094 RCV004032885
NM_003640.5(ELP1):c.3572+12A>T	SNV Germline	Chr9:108879434	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided	Criteria Provided Conflicting Classifications		rs_1055164302	2 SubmittersRCV001169093 RCV002558676
NM_003640.5(ELP1):c.2861-12T>G	SNV Germline	Chr9:108893095	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided Familial dysautonomia Medulloblastoma	Criteria Provided Conflicting Classifications		rs_746590157	3 SubmittersRCV001166668 RCV003737014 RCV002491479
NM_003640.5(ELP1):c.2502-13C>T	SNV Germline	Chr9:108897051	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia	Criteria Provided Conflicting Classifications		rs_138510668	2 SubmittersRCV003769820 RCV001168405
NM_003640.5(ELP1):c.649+12T>C	SNV Germline	Chr9:108919241	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided	Criteria Provided Conflicting Classifications		rs_375554772	2 SubmittersRCV001169197 RCV002067832
NM_003640.5(ELP1):c.3790C>T (p.Gln1264Ter)	SNV Germline	Chr9:108878060	Pathogenic/Likely pathogenic	Condition: not provided Familial dysautonomia Medulloblastoma Medulloblastoma	Criteria Provided Multiple Submitters No Conflicts		rs_1827767235	3 SubmittersRCV001214239 RCV002504257 RCV002290642
NM_003640.5(ELP1):c.1735T>C (p.Phe579Leu)	SNV Germline	Chr9:108903578	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia Medulloblastoma not specified	Criteria Provided Conflicting Classifications		rs_199555804	3 SubmittersRCV001239109 RCV002499392 RCV004907690
NM_003640.5(ELP1):c.2374G>A (p.Val792Ile)	SNV Germline	Chr9:108897275	Conflicting classifications of pathogenicity	Familial dysautonomia Medulloblastoma Familial dysautonomia Condition: not provided not specified	Criteria Provided Conflicting Classifications		rs_546587836	4 SubmittersRCV001278709 RCV002480903 RCV002541690 RCV004035474
NM_003640.5(ELP1):c.3855+2T>G	SNV Germline	Chr9:108877993	Likely pathogenic	Condition: not provided Familial dysautonomia	Criteria Provided Single Submitter		rs_2118933859	2 SubmittersRCV001379773 RCV001826155
NM_003640.5(ELP1):c.3460+1G>A	SNV Germline	Chr9:108880051	Likely pathogenic	Condition: not provided Familial dysautonomia	Criteria Provided Single Submitter		rs_1478450302	2 SubmittersRCV001378128 RCV001826136
NM_003640.5(ELP1):c.959-1G>A	SNV Germline	Chr9:108912495	Likely pathogenic	Condition: not provided Familial dysautonomia	Criteria Provided Single Submitter		rs_2132017099	2 SubmittersRCV001378603 RCV001826143
NM_003640.5(ELP1):c.737G>A (p.Trp246Ter)	SNV Germline	Chr9:108918814	Pathogenic/Likely pathogenic	Condition: not provided Familial dysautonomia	Criteria Provided Multiple Submitters No Conflicts		rs_1317221906	2 SubmittersRCV001388056 RCV004017831
NM_003640.5(ELP1):c.572G>A (p.Trp191Ter)	SNV Germline	Chr9:108919330	Pathogenic/Likely pathogenic	Condition: not provided Familial dysautonomia	Criteria Provided Multiple Submitters No Conflicts		rs_1829561209	2 SubmittersRCV001381430 RCV002282535
NM_003640.5(ELP1):c.2295A>T (p.Gly765=)	SNV Germline	Chr9:108898570	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia Medulloblastoma	Criteria Provided Conflicting Classifications		rs_137874743	2 SubmittersRCV001934243 RCV002484686
NM_003640.5(ELP1):c.3595A>T (p.Lys1199Ter)	SNV Germline	Chr9:108878728	Pathogenic/Likely pathogenic	Condition: not provided Familial dysautonomia Medulloblastoma	Criteria Provided Multiple Submitters No Conflicts		rs_762224071	2 SubmittersRCV001960589 RCV002492122
NM_003640.5(ELP1):c.3343G>T (p.Glu1115Ter)	SNV Germline	Chr9:108881708	Pathogenic	Condition: not provided Familial dysautonomia	Criteria Provided Multiple Submitters No Conflicts		rs_906880093	2 SubmittersRCV001952594 RCV002271702
NM_003640.5(ELP1):c.3542A>G (p.Lys1181Arg)	SNV Germline	Chr9:108879476	Conflicting classifications of pathogenicity	Condition: not provided Medulloblastoma Familial dysautonomia not specified	Criteria Provided Conflicting Classifications		rs_367582146	4 SubmittersRCV001908956 RCV002503546 RCV003323946
NM_003640.5(ELP1):c.1361-1G>T	SNV Germline	Chr9:108908405	Pathogenic/Likely pathogenic	Condition: not provided Medulloblastoma Familial dysautonomia	Criteria Provided Multiple Submitters No Conflicts		rs_372225464	2 SubmittersRCV001951463 RCV002507707
NM_003640.5(ELP1):c.740+1G>T	SNV Germline	Chr9:108918810	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter			1 SubmittersRCV002302502
NM_003640.5(ELP1):c.2930T>A (p.Leu977Ter)	SNV Unknown	Chr9:108893014	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter			1 SubmittersRCV002306519
NM_003640.5(ELP1):c.882G>A (p.Trp294Ter)	SNV Germline	Chr9:108916280	Pathogenic/Likely pathogenic	Familial dysautonomia not specified	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV002306569 RCV004047731
NM_003640.5(ELP1):c.3502G>T (p.Glu1168Ter)	SNV Unknown	Chr9:108879516	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter			1 SubmittersRCV002306605
NM_003640.5(ELP1):c.984T>A (p.Tyr328Ter)	SNV Unknown	Chr9:108912469	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter			1 SubmittersRCV002306728
NM_003640.5(ELP1):c.1835T>A (p.Leu612Ter)	SNV Unknown	Chr9:108902858	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter			1 SubmittersRCV002306803
NM_003640.5(ELP1):c.2584C>T (p.Gln862Ter)	SNV Unknown	Chr9:108896956	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter			1 SubmittersRCV002309618
NM_003640.5(ELP1):c.496A>T (p.Lys166Ter)	SNV Unknown	Chr9:108922898	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter			1 SubmittersRCV002309967
NM_003640.5(ELP1):c.529C>T (p.Gln177Ter)	SNV Unknown	Chr9:108922865	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter			1 SubmittersRCV002308092
NM_003640.5(ELP1):c.639C>A (p.Cys213Ter)	SNV Unknown	Chr9:108919263	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter			1 SubmittersRCV002309182
NM_003640.5(ELP1):c.2281A>T (p.Lys761Ter)	SNV Unknown	Chr9:108898673	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter			1 SubmittersRCV002309235
NM_003640.5(ELP1):c.3719T>G (p.Leu1240Ter)	SNV Unknown	Chr9:108878131	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter			1 SubmittersRCV002306998
NM_003640.5(ELP1):c.1027A>T (p.Lys343Ter)	SNV Unknown	Chr9:108912426	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter			1 SubmittersRCV002307285
NM_003640.5(ELP1):c.1955T>A (p.Leu652Ter)	SNV Unknown	Chr9:108901484	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter			1 SubmittersRCV002310412
NM_003640.5(ELP1):c.1113T>A (p.Tyr371Ter)	SNV Unknown	Chr9:108912340	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter			1 SubmittersRCV002310565
NM_003640.5(ELP1):c.1780A>T (p.Lys594Ter)	SNV Unknown	Chr9:108902913	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter			1 SubmittersRCV002308384
NM_003640.5(ELP1):c.814G>T (p.Gly272Ter)	SNV Germline	Chr9:108917597	Pathogenic/Likely pathogenic	Condition: not provided Familial dysautonomia	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002866887 RCV004017950
NM_003640.5(ELP1):c.3855+2T>A	SNV Germline	Chr9:108877993	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter			1 SubmittersRCV004587996
NM_003640.5(ELP1):c.1909-2A>G	SNV Germline	Chr9:108901532	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter			1 SubmittersRCV004702755

NM_003640.5(ELP1):c.2204+6T>C

SNV
Germline

Chr9:108899816

Pathogenic

Familial dysautonomia
Condition: not provided
Charcot-Marie-Tooth disease
Medulloblastoma
not specified

Criteria Provided
Multiple Submitters
No Conflicts

CA284834

rs_111033171

21 SubmittersRCV000006458 RCV000058928 RCV000789357 RCV003444194 RCV004018577

NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro)

SNV
Germline

Chr9:108900303

Pathogenic/Likely pathogenic

Familial dysautonomia
Charcot-Marie-Tooth disease
Condition: not provided
Familial dysautonomia
Medulloblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA253767

rs_137853022

9 SubmittersRCV000006459 RCV000789660 RCV001380395 RCV002482833

NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu)

SNV
Germline

Chr9:108894062

Likely pathogenic

Familial dysautonomia
Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA253769

rs_28939712

3 SubmittersRCV000006460 RCV000789661

NM_003640.5(ELP1):c.1230G>A (p.Pro410=)

SNV
Germline

Chr9:108911140

Conflicting classifications of pathogenicity

not specified
Familial dysautonomia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA291214

rs_41278359

8 SubmittersRCV000125400 RCV000308481 RCV000857535

NM_003640.5(ELP1):c.1886G>A (p.Arg629His)

SNV
Germline

Chr9:108901650

Conflicting classifications of pathogenicity

not specified
Familial dysautonomia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA240882

rs_148378319

9 SubmittersRCV000214808 RCV000316773 RCV000724344

NM_003640.5(ELP1):c.3280A>G (p.Arg1094Gly)

SNV
Germline

Chr9:108882130

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia
not specified

Criteria Provided
Conflicting Classifications

CA5174360

rs_146440397

9 SubmittersRCV000659118 RCV001166178 RCV004020903

NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln)

SNV
Germline

Chr9:108893978

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia
Medulloblastoma
not specified

Criteria Provided
Conflicting Classifications

CA5174526

rs_149845612

11 SubmittersRCV000757401 RCV001166669 RCV002291611 RCV004020902

NM_003640.5(ELP1):c.1364A>G (p.Asp455Gly)

SNV
Germline

Chr9:108908401

Conflicting classifications of pathogenicity

Condition: not provided
ELP1-related disorder
Familial dysautonomia
Medulloblastoma
not specified

Criteria Provided
Conflicting Classifications

CA5175034

rs_149685738

7 SubmittersRCV000227222 RCV004751397 RCV001276239 RCV003230264 RCV004020906

NM_003640.5(ELP1):c.208C>T (p.Arg70Cys)

SNV
Germline

Chr9:108929864

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia
not specified

Criteria Provided
Conflicting Classifications

CA5175431

rs_3737311

6 SubmittersRCV000278649 RCV000287654 RCV004021176

NM_003640.5(ELP1):c.3474C>T (p.Pro1158=)

SNV
Germline

Chr9:108879544

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided
ELP1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA5174285

rs_146956297

7 SubmittersRCV000384366 RCV000863170 RCV003922638 RCV004022092

NM_003640.5(ELP1):c.3222+14C>T

SNV
Germline

Chr9:108889318

Conflicting classifications of pathogenicity

Familial dysautonomia
not specified
Condition: not provided
ELP1-related disorder

Criteria Provided
Conflicting Classifications

CA5174381

rs_374787755

6 SubmittersRCV000377567 RCV000432127 RCV001699403 RCV003950291

NM_003640.5(ELP1):c.1878C>T (p.Asp626=)

SNV
Germline

Chr9:108901658

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided
ELP1-related disorder

Criteria Provided
Conflicting Classifications

CA5174858

rs_141596257

5 SubmittersRCV000387658 RCV000858502 RCV003950292

NM_003640.5(ELP1):c.3869A>G (p.Asn1290Ser)

SNV
Germline

Chr9:108874957

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5174147

rs_145319352

6 SubmittersRCV000355008 RCV000757404 RCV004022089

NM_003640.5(ELP1):c.2799G>A (p.Arg933=)

SNV
Germline

Chr9:108894004

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5174535

rs_367974002

5 SubmittersRCV000390834 RCV000867149 RCV004022095

NM_003640.5(ELP1):c.923T>C (p.Leu308Pro)

SNV
Germline

Chr9:108916239

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided
ELP1-related disorder

Criteria Provided
Conflicting Classifications

CA5175196

rs_78135392

6 SubmittersRCV000262689 RCV000755553 RCV003932508

NM_003640.5(ELP1):c.169T>C (p.Leu57=)

SNV
Germline

Chr9:108929903

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10628782

rs_886063349

4 SubmittersRCV000339134 RCV002058764 RCV004022104

NM_003640.5(ELP1):c.-155A>T

SNV
Germline

Chr9:108933963

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10628783

rs_117100816

2 SubmittersRCV000356773 RCV003422364

NM_003640.5(ELP1):c.3876T>G (p.Thr1292=)

SNV
Germline

Chr9:108874950

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided
ELP1-related disorder

Criteria Provided
Conflicting Classifications

CA5174146

rs_61749202

8 SubmittersRCV000297833 RCV000590763 RCV003970072

NM_003640.5(ELP1):c.3513T>C (p.Ser1171=)

SNV
Germline

Chr9:108879505

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5174275

rs_199617076

4 SubmittersRCV000274649 RCV000869320 RCV004022091

NM_003640.5(ELP1):c.1911T>C (p.Val637=)

SNV
Germline

Chr9:108901528

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5174837

rs_369645371

8 SubmittersRCV000278309 RCV001450077 RCV004022098

NM_003640.5(ELP1):c.304-5C>T

SNV
Germline

Chr9:108927458

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5175398

rs_370384351

2 SubmittersRCV000327469 RCV000858401

NM_003640.5(ELP1):c.209G>A (p.Arg70His)

SNV
Germline

Chr9:108929863

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided
Hereditary sensory and autonomic neuropathy
ELP1-related disorder

Criteria Provided
Conflicting Classifications

CA5175430

rs_111936933

6 SubmittersRCV000384303 RCV000858275 RCV001271221 RCV003922639

NM_003640.5(ELP1):c.3931+14C>G

SNV
Germline

Chr9:108874881

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10632209

rs_555520875

3 SubmittersRCV000406241 RCV002061308

NM_003640.5(ELP1):c.2958+10A>T

SNV
Germline

Chr9:108892976

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5174489

rs_768709875

2 SubmittersRCV000298453 RCV001451072

NM_003640.5(ELP1):c.2598C>T (p.Pro866=)

SNV
Germline

Chr9:108896634

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5174574

rs_773218149

5 SubmittersRCV000312657 RCV001459462 RCV004022096

NM_003640.5(ELP1):c.2370A>G (p.Glu790=)

SNV
Germline

Chr9:108897279

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5174662

rs_772114554

4 SubmittersRCV000324095 RCV001417884 RCV004022097

NM_003640.5(ELP1):c.947C>T (p.Pro316Leu)

SNV
Germline

Chr9:108916215

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided
Familial dysautonomia
Medulloblastoma
not specified

Criteria Provided
Conflicting Classifications

CA5175187

rs_374814563

7 SubmittersRCV000302687 RCV000493897 RCV002488820 RCV003330656

NM_003640.5(ELP1):c.203G>T (p.Ser68Ile)

SNV
Germline

Chr9:108929869

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5175432

rs_143723093

4 SubmittersRCV000345015 RCV000863374 RCV004022103

NM_003640.5(ELP1):c.2860+2T>C

SNV
Germline

Chr9:108893941

Likely pathogenic

Familial dysautonomia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA5174517

rs_754348901

2 SubmittersRCV000409912 RCV001865258

NM_003640.5(ELP1):c.2817C>A (p.Tyr939Ter)

SNV
Unknown

Chr9:108893986

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

CA5174529

rs_749052963

1 SubmittersRCV000410939

NM_003640.5(ELP1):c.2204+1G>A

SNV
Germline

Chr9:108899821

Likely pathogenic

Familial dysautonomia

Criteria Provided
Multiple Submitters
No Conflicts

CA16041295

rs_1057517169

2 SubmittersRCV000409095

NM_003640.5(ELP1):c.1213C>T (p.Arg405Trp)

SNV
Germline

Chr9:108911157

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Familial dysautonomia
Hereditary sensory and autonomic neuropathy

Criteria Provided
Conflicting Classifications

CA5175080

rs_139703788

7 SubmittersRCV000630703 RCV000780354 RCV001168463 RCV001276240

NM_003640.5(ELP1):c.3347-15A>G

SNV
Germline

Chr9:108880180

Conflicting classifications of pathogenicity

not specified
Familial dysautonomia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5174326

rs_200154542

6 SubmittersRCV000434445 RCV001166177 RCV001701004

NM_003640.5(ELP1):c.2436C>T (p.Asp812=)

SNV
Germline

Chr9:108897213

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia

Criteria Provided
Conflicting Classifications

CA5174646

rs_113967847

4 SubmittersRCV000828356 RCV001169158

NM_003640.5(ELP1):c.948G>A (p.Pro316=)

SNV
Germline

Chr9:108916214

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia
not specified

Criteria Provided
Conflicting Classifications

CA5175186

rs_148917889

7 SubmittersRCV000529925 RCV001168466 RCV004023742

NM_003640.5(ELP1):c.650-6G>A

SNV
Germline

Chr9:108918907

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia
not specified

Criteria Provided
Conflicting Classifications

CA5175273

rs_571466270

3 SubmittersRCV000530797 RCV001271216 RCV004023741

NM_003640.5(ELP1):c.1704A>G (p.Ser568=)

SNV
Germline

Chr9:108903609

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Familial dysautonomia

Criteria Provided
Conflicting Classifications

CA5174925

rs_138192941

7 SubmittersRCV000592752 RCV000726723 RCV001166745

NM_003640.5(ELP1):c.1461-2A>G

SNV
Germline

Chr9:108906487

Pathogenic/Likely pathogenic

Condition: not provided
Familial dysautonomia
Medulloblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA197540498

rs_866046915

7 SubmittersRCV000596965 RCV000668028 RCV003989567

NM_003640.5(ELP1):c.2217A>G (p.Lys739=)

SNV
Germline

Chr9:108898737

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia
not specified

Criteria Provided
Conflicting Classifications

CA5174728

rs_139583037

4 SubmittersRCV000593304 RCV001276229 RCV004024769

NM_003640.5(ELP1):c.312T>A (p.Cys104Ter)

SNV
Germline

Chr9:108927445

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia
ELP1-related disorder

Criteria Provided
Conflicting Classifications

CA374392175

rs_1291760879

5 SubmittersRCV000596363 RCV000778872 RCV003403403

NM_003640.5(ELP1):c.3573-7C>G

SNV
Germline

Chr9:108878757

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5174241

rs_370571926

4 SubmittersRCV000630701 RCV000859237

NM_003640.5(ELP1):c.1039G>T (p.Val347Leu)

SNV
Germline

Chr9:108912414

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia
not specified

Criteria Provided
Conflicting Classifications

CA5175144

rs_748458910

3 SubmittersRCV000630680 RCV001276242 RCV004025383

NM_003640.5(ELP1):c.606G>T (p.Gly202=)

SNV
Germline

Chr9:108919296

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia

Criteria Provided
Conflicting Classifications

CA5175297

rs_768309637

4 SubmittersRCV000827122 RCV001166286

NM_003640.5(ELP1):c.2958+1G>C

SNV
Germline

Chr9:108892985

Likely pathogenic

Familial dysautonomia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1239081703

2 SubmittersRCV000667505 RCV001855481

NM_003640.5(ELP1):c.2014+1G>A

SNV
Unknown

Chr9:108901424

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

rs_1554696574

1 SubmittersRCV000672450

NM_003640.5(ELP1):c.1461-1G>T

SNV
Unknown

Chr9:108906486

Likely pathogenic

Familial dysautonomia
Medulloblastoma
Familial dysautonomia

Criteria Provided
Multiple Submitters
No Conflicts

rs_539544212

2 SubmittersRCV000667416 RCV002493094

NM_003640.5(ELP1):c.1461-1G>A

SNV
Germline

Chr9:108906486

Likely pathogenic

Familial dysautonomia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_539544212

2 SubmittersRCV000672968 RCV002532138

NM_003640.5(ELP1):c.1360+1G>T

SNV
Germline

Chr9:108911009

Likely pathogenic

Familial dysautonomia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1201626345

2 SubmittersRCV000668411 RCV003546586

NM_003640.5(ELP1):c.385+1G>A

SNV
Germline

Chr9:108927371

Likely pathogenic

Familial dysautonomia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554703061

3 SubmittersRCV000674490 RCV001378198

NM_003640.5(ELP1):c.151-1G>T

SNV
Unknown

Chr9:108929922

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

rs_1554703613

1 SubmittersRCV000674659

NM_003640.5(ELP1):c.79C>T (p.Arg27Ter)

SNV
Germline

Chr9:108931068

Pathogenic/Likely pathogenic

Familial dysautonomia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_868073099

2 SubmittersRCV000667419 RCV001855480

NM_003640.5(ELP1):c.4C>T (p.Arg2Ter)

SNV
Germline

Chr9:108931143

Pathogenic/Likely pathogenic

Familial dysautonomia
Condition: not provided
Medulloblastoma

Criteria Provided
Multiple Submitters
No Conflicts

rs_926177767

5 SubmittersRCV000667461 RCV001204091 RCV003325211

NM_003640.5(ELP1):c.3592C>T (p.Arg1198Ter)

SNV
Germline

Chr9:108878731

Pathogenic/Likely pathogenic

Familial dysautonomia
Condition: not provided
Medulloblastoma
Familial dysautonomia
ELP1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_376078668

5 SubmittersRCV000668488 RCV001071602 RCV002499163 RCV003411577

NM_003640.5(ELP1):c.2587+2T>G

SNV
Germline

Chr9:108896951

Likely pathogenic

Familial dysautonomia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554695299

2 SubmittersRCV000667504 RCV003546585

NM_003640.5(ELP1):c.1908+2T>A

SNV
Unknown

Chr9:108901626

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

rs_1554696648

1 SubmittersRCV000667502

NM_003640.5(ELP1):c.1854+1G>A

SNV
Germline

Chr9:108902838

Likely pathogenic

Familial dysautonomia
Medulloblastoma
Familial dysautonomia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554696934

3 SubmittersRCV000674672 RCV002499191 RCV002544672

NM_003640.5(ELP1):c.1189+1G>A

SNV
Unknown

Chr9:108912263

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

rs_1554699327

1 SubmittersRCV000667471

NM_003640.5(ELP1):c.151-1G>A

SNV
Germline

Chr9:108929922

Likely pathogenic

Familial dysautonomia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554703613

2 SubmittersRCV000668015 RCV003708547

NM_003640.5(ELP1):c.3931+1G>T

SNV
Germline

Chr9:108874894

Conflicting classifications of pathogenicity

Familial dysautonomia
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_143674809

4 SubmittersRCV000666267 RCV003117466 RCV002530675

NM_003640.5(ELP1):c.3701-1G>A

SNV
Germline

Chr9:108878150

Likely pathogenic

Familial dysautonomia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554691572

2 SubmittersRCV000667528 RCV003767957

NM_003640.5(ELP1):c.2205-1G>C

SNV
Germline

Chr9:108898750

Likely pathogenic

Familial dysautonomia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554695846

2 SubmittersRCV000667498 RCV001861759

NM_003640.5(ELP1):c.1751-2A>T

SNV
Unknown

Chr9:108902944

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

rs_1554697001

1 SubmittersRCV000674829

NM_003640.5(ELP1):c.1750+1G>T

SNV
Unknown

Chr9:108903562

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

rs_770668926

1 SubmittersRCV000673955

NM_003640.5(ELP1):c.552+2T>A

SNV
Germline

Chr9:108922840

Likely pathogenic

Familial dysautonomia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554702142

3 SubmittersRCV000667989 RCV001216024

NM_003640.5(ELP1):c.552+1G>T

SNV
Germline

Chr9:108922841

Likely pathogenic

Familial dysautonomia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_765572951

2 SubmittersRCV000673191 RCV003768003

NM_003640.5(ELP1):c.386-2A>C

SNV
Unknown

Chr9:108926605

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

rs_1554702880

1 SubmittersRCV000668110

NM_003640.5(ELP1):c.150+1G>A

SNV
Unknown

Chr9:108930996

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

rs_1554703831

1 SubmittersRCV000669523

NM_003640.5(ELP1):c.3701-6C>G

SNV
Germline

Chr9:108878155

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_148535504

4 SubmittersRCV000664986 RCV001391327 RCV004026077

NM_003640.5(ELP1):c.3346+1G>A

SNV
Germline

Chr9:108881704

Likely pathogenic

Familial dysautonomia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_760774999

3 SubmittersRCV000669335 RCV001056423

NM_003640.5(ELP1):c.304-2A>G

SNV
Germline

Chr9:108927455

Likely pathogenic

Familial dysautonomia
Condition: not provided
Medulloblastoma
Familial dysautonomia

Criteria Provided
Multiple Submitters
No Conflicts

rs_757972943

4 SubmittersRCV000667469 RCV001379354 RCV002485537

NM_003640.5(ELP1):c.1A>T (p.Met1Leu)

SNV
Unknown

Chr9:108931146

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

rs_1554703907

1 SubmittersRCV000667495

NM_003640.5(ELP1):c.1768A>G (p.Ile590Val)

SNV
Germline

Chr9:108902925

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia
not specified

Criteria Provided
Conflicting Classifications

rs_369856286

3 SubmittersRCV000698326 RCV001835923 RCV004026442

NM_003640.5(ELP1):c.1309A>C (p.Asn437His)

SNV
Germline

Chr9:108911061

Conflicting classifications of pathogenicity

Familial dysautonomia
Medulloblastoma
Familial dysautonomia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_148609833

7 SubmittersRCV000796780 RCV002495051 RCV002534609 RCV004027574

NM_003640.5(ELP1):c.3572+1G>A

SNV
Germline

Chr9:108879445

Likely pathogenic

Familial dysautonomia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_571348995

3 SubmittersRCV000806459 RCV001377355

NM_003640.5(ELP1):c.2026G>A (p.Gly676Ser)

SNV
Germline

Chr9:108900364

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia
not specified

Criteria Provided
Conflicting Classifications

rs_537930129

5 SubmittersRCV000863776 RCV001169160 RCV004027602

NM_003640.5(ELP1):c.2769A>G (p.Thr923=)

SNV
Germline

Chr9:108894034

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia

Criteria Provided
Conflicting Classifications

rs_370330097

3 SubmittersRCV000870786 RCV001168404

NM_003640.5(ELP1):c.1914G>A (p.Ala638=)

SNV
Germline

Chr9:108901525

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia
not specified

Criteria Provided
Conflicting Classifications

rs_142096497

3 SubmittersRCV000867920 RCV001563846 RCV004027708

NM_003640.5(ELP1):c.3441A>G (p.Gln1147=)

SNV
Germline

Chr9:108880071

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia

Criteria Provided
Conflicting Classifications

rs_779796058

3 SubmittersRCV000873503 RCV001169094

NM_003640.5(ELP1):c.717A>C (p.Gly239=)

SNV
Germline

Chr9:108918834

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia

Criteria Provided
Conflicting Classifications

rs_1333495798

2 SubmittersRCV000875057 RCV001169196

NM_003640.5(ELP1):c.959-8C>T

SNV
Germline

Chr9:108912502

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia

Criteria Provided
Conflicting Classifications

rs_766511916

3 SubmittersRCV000936966 RCV001168465

NM_003640.5(ELP1):c.2824C>T (p.Arg942Ter)

SNV
Germline

Chr9:108893979

Pathogenic/Likely pathogenic

Condition: not provided
Medulloblastoma
Familial dysautonomia
not specified
Medulloblastoma

Criteria Provided
Multiple Submitters
No Conflicts

rs_761911009

4 SubmittersRCV001052645 RCV002505601 RCV004031649 RCV003444766

NM_003640.5(ELP1):c.3144C>T (p.Leu1048=)

SNV
Germline

Chr9:108891219

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_764867856

2 SubmittersRCV001166667 RCV002067812

NM_003640.5(ELP1):c.1957T>C (p.Leu653=)

SNV
Germline

Chr9:108901482

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_542412132

4 SubmittersRCV001166230 RCV001521094 RCV004032885

NM_003640.5(ELP1):c.3572+12A>T

SNV
Germline

Chr9:108879434

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1055164302

2 SubmittersRCV001169093 RCV002558676

NM_003640.5(ELP1):c.2861-12T>G

SNV
Germline

Chr9:108893095

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided
Familial dysautonomia
Medulloblastoma

Criteria Provided
Conflicting Classifications

rs_746590157

3 SubmittersRCV001166668 RCV003737014 RCV002491479

NM_003640.5(ELP1):c.2502-13C>T

SNV
Germline

Chr9:108897051

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia

Criteria Provided
Conflicting Classifications

rs_138510668

2 SubmittersRCV003769820 RCV001168405

NM_003640.5(ELP1):c.649+12T>C

SNV
Germline

Chr9:108919241

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_375554772

2 SubmittersRCV001169197 RCV002067832

NM_003640.5(ELP1):c.3790C>T (p.Gln1264Ter)

SNV
Germline

Chr9:108878060

Pathogenic/Likely pathogenic

Condition: not provided
Familial dysautonomia
Medulloblastoma
Medulloblastoma

Criteria Provided
Multiple Submitters
No Conflicts

rs_1827767235

3 SubmittersRCV001214239 RCV002504257 RCV002290642

NM_003640.5(ELP1):c.1735T>C (p.Phe579Leu)

SNV
Germline

Chr9:108903578

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia
Medulloblastoma
not specified

Criteria Provided
Conflicting Classifications

rs_199555804

3 SubmittersRCV001239109 RCV002499392 RCV004907690

NM_003640.5(ELP1):c.2374G>A (p.Val792Ile)

SNV
Germline

Chr9:108897275

Conflicting classifications of pathogenicity

Familial dysautonomia
Medulloblastoma
Familial dysautonomia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_546587836

4 SubmittersRCV001278709 RCV002480903 RCV002541690 RCV004035474

NM_003640.5(ELP1):c.3855+2T>G

SNV
Germline

Chr9:108877993

Likely pathogenic

Condition: not provided
Familial dysautonomia

Criteria Provided
Single Submitter

rs_2118933859

2 SubmittersRCV001379773 RCV001826155

NM_003640.5(ELP1):c.3460+1G>A

SNV
Germline

Chr9:108880051

Likely pathogenic

Condition: not provided
Familial dysautonomia

Criteria Provided
Single Submitter

rs_1478450302

2 SubmittersRCV001378128 RCV001826136

NM_003640.5(ELP1):c.959-1G>A

SNV
Germline

Chr9:108912495

Likely pathogenic

Condition: not provided
Familial dysautonomia

Criteria Provided
Single Submitter

rs_2132017099

2 SubmittersRCV001378603 RCV001826143

NM_003640.5(ELP1):c.737G>A (p.Trp246Ter)

SNV
Germline

Chr9:108918814

Pathogenic/Likely pathogenic

Condition: not provided
Familial dysautonomia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1317221906

2 SubmittersRCV001388056 RCV004017831

NM_003640.5(ELP1):c.572G>A (p.Trp191Ter)

SNV
Germline

Chr9:108919330

Pathogenic/Likely pathogenic

Condition: not provided
Familial dysautonomia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1829561209

2 SubmittersRCV001381430 RCV002282535

NM_003640.5(ELP1):c.2295A>T (p.Gly765=)

SNV
Germline

Chr9:108898570

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia
Medulloblastoma

Criteria Provided
Conflicting Classifications

rs_137874743

2 SubmittersRCV001934243 RCV002484686

NM_003640.5(ELP1):c.3595A>T (p.Lys1199Ter)

SNV
Germline

Chr9:108878728

Pathogenic/Likely pathogenic

Condition: not provided
Familial dysautonomia
Medulloblastoma

Criteria Provided
Multiple Submitters
No Conflicts

rs_762224071

2 SubmittersRCV001960589 RCV002492122

NM_003640.5(ELP1):c.3343G>T (p.Glu1115Ter)

SNV
Germline

Chr9:108881708

Pathogenic

Condition: not provided
Familial dysautonomia

Criteria Provided
Multiple Submitters
No Conflicts

rs_906880093

2 SubmittersRCV001952594 RCV002271702

NM_003640.5(ELP1):c.3542A>G (p.Lys1181Arg)

SNV
Germline

Chr9:108879476

Conflicting classifications of pathogenicity

Condition: not provided
Medulloblastoma
Familial dysautonomia
not specified

Criteria Provided
Conflicting Classifications

rs_367582146

4 SubmittersRCV001908956 RCV002503546 RCV003323946

NM_003640.5(ELP1):c.1361-1G>T

SNV
Germline

Chr9:108908405

Pathogenic/Likely pathogenic

Condition: not provided
Medulloblastoma
Familial dysautonomia

Criteria Provided
Multiple Submitters
No Conflicts

rs_372225464

2 SubmittersRCV001951463 RCV002507707

NM_003640.5(ELP1):c.740+1G>T

SNV
Germline

Chr9:108918810

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

1 SubmittersRCV002302502

NM_003640.5(ELP1):c.2930T>A (p.Leu977Ter)

SNV
Unknown

Chr9:108893014

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

1 SubmittersRCV002306519

NM_003640.5(ELP1):c.882G>A (p.Trp294Ter)

SNV
Germline

Chr9:108916280

Pathogenic/Likely pathogenic

Familial dysautonomia
not specified

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002306569 RCV004047731

NM_003640.5(ELP1):c.3502G>T (p.Glu1168Ter)

SNV
Unknown

Chr9:108879516

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

1 SubmittersRCV002306605

NM_003640.5(ELP1):c.984T>A (p.Tyr328Ter)

SNV
Unknown

Chr9:108912469

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

1 SubmittersRCV002306728

NM_003640.5(ELP1):c.1835T>A (p.Leu612Ter)

SNV
Unknown

Chr9:108902858

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

1 SubmittersRCV002306803

NM_003640.5(ELP1):c.2584C>T (p.Gln862Ter)

SNV
Unknown

Chr9:108896956

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

1 SubmittersRCV002309618

NM_003640.5(ELP1):c.496A>T (p.Lys166Ter)

SNV
Unknown

Chr9:108922898

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

1 SubmittersRCV002309967

NM_003640.5(ELP1):c.529C>T (p.Gln177Ter)

SNV
Unknown

Chr9:108922865

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

1 SubmittersRCV002308092

NM_003640.5(ELP1):c.639C>A (p.Cys213Ter)

SNV
Unknown

Chr9:108919263

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

1 SubmittersRCV002309182

NM_003640.5(ELP1):c.2281A>T (p.Lys761Ter)

SNV
Unknown

Chr9:108898673

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

1 SubmittersRCV002309235

NM_003640.5(ELP1):c.3719T>G (p.Leu1240Ter)

SNV
Unknown

Chr9:108878131

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

1 SubmittersRCV002306998

NM_003640.5(ELP1):c.1027A>T (p.Lys343Ter)

SNV
Unknown

Chr9:108912426

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

1 SubmittersRCV002307285

NM_003640.5(ELP1):c.1955T>A (p.Leu652Ter)

SNV
Unknown

Chr9:108901484

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

1 SubmittersRCV002310412

NM_003640.5(ELP1):c.1113T>A (p.Tyr371Ter)

SNV
Unknown

Chr9:108912340

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

1 SubmittersRCV002310565

NM_003640.5(ELP1):c.1780A>T (p.Lys594Ter)

SNV
Unknown

Chr9:108902913

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

1 SubmittersRCV002308384

NM_003640.5(ELP1):c.814G>T (p.Gly272Ter)

SNV
Germline

Chr9:108917597

Pathogenic/Likely pathogenic

Condition: not provided
Familial dysautonomia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002866887 RCV004017950

NM_003640.5(ELP1):c.3855+2T>A

SNV
Germline

Chr9:108877993

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

1 SubmittersRCV004587996

NM_003640.5(ELP1):c.1909-2A>G

SNV
Germline

Chr9:108901532

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

1 SubmittersRCV004702755